Partial ATRX gene duplication causes ATR-X syndrome

Am J Med Genet A. 2009 Oct;149A(10):2317-20. doi: 10.1002/ajmg.a.33006.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • DNA Helicases / genetics*
  • Family
  • Gene Duplication*
  • Humans
  • Male
  • Mental Retardation, X-Linked / complications
  • Mental Retardation, X-Linked / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Syndrome
  • X-linked Nuclear Protein
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*

Substances

  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein